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Pompe disease is a rare, progressive, multisystemic disease. Here we report results of an online quantitative survey of people living with late-onset Pompe disease (LOPD) in the UK, with the aim to better understand and quantify their experiences throughout the disease journey. 37 participants (male, n=19 [51%]; mean age, 54.1 years; mean age at symptom onset, 33.2 years; mean age at LOPD diagnosis, 42.5 years; received ≥1 misdiagnosis, n=17 [46%]) completed the survey consisting of 42 questions in January 2022. Results revealed that most participants received assistance with day-to-day living (n=30, 81%), with the most frequent LOPD-associated symptoms being walking difficulties (n=35, 95%), fatigue (n=35, 95%) and muscle weakness (n=34, 92%). 26 participants (70%) were being treated with standard-of-care enzyme replacement therapy (ERT) at the time of the survey; 14 (54%) of those for >10 years and 20 (77%) deeming their condition to have deteriorated since treatment began. Several patients receiving ERT mentioned the need for more efficacious or novel treatments (n=6, 23%) and the use of a delivery method less invasive than intravenous (n=5, 19%) as desired improvements to ERT. Many participants stated the provision of ancillary therapies (eg physiotherapy [n=27, 73%], dietary advice [n=18, 49%]) and mental health counselling [n=17, 46%]) would help them better manage their condition. The COVID-19 pandemic has been a period of increased anxiety and physical deterioration for many participants, with 50% (n=13) of those on ERT stating their treatment had been interrupted due to the pandemic. However, several people mentioned initiation of home-based/self-administered therapies (n=4, 11%) and reduced travel (n=5, 14%) as beneficial outcomes of the pandemic. Findings from this study further characterise the challenges faced by people living with LOPD, highlighting the need for varied patient support and more efficacious treatment options. [ABSTRACT FROM AUTHOR]

Pompe disease is a rare, progressive, multisystemic disease. We evaluated the burden, unmet needs and management landscape of people living with late-onset Pompe disease (LOPD) based on their own experiences and the opinions of healthcare professionals (HCPs). The objectives were to better understand the experiences of LOPD patients in the UK, including their diagnostic and treatment journeys; the impact of LOPD on quality of life; their experiences during the COVID-19 pandemic; and the concordance between patients' and HCPs' perceptions of living with LOPD. In-depth qualitative interviews were conducted with 27 participants living with LOPD (male, n=13 [48%]; mean age, 56 years; mean age at diagnosis, 43 years). Interviews revealed that the diagnostic process was typically long and distressing, with most participants emphasising a desire for reduced times to diagnosis, referral to a specialist and treatment initiation. The most frequently reported LOPD-associated symptoms were walking difficulties (n=27, 100%) and fatigue (n=26, 96.3%). For many participants, the COVID-19 pandemic has been a period of increased anxiety and physical deterioration. In-depth qualitative interviews were also conducted with 8 HCPs (specialist nurses, n=4; metabolic consultants, n=2; cardiologist, n=1; physiotherapist, n=1): although HCPs had similar views to patients of the challenges of living with LOPD and patients' unmet needs, their responses suggested a reduced awareness of the acute emotional changes experienced by patients at different stages of the disease journey. HCPs emphasised the need to manage patients' expectations around available therapies, and that the increased use of technology in consultations and treatment was a positive outcome of the COVID-19 pandemic. Findings from this study further characterise the challenges faced by people living with LOPD, particularly during the COVID-19 pandemic. [ABSTRACT FROM AUTHOR]